Literature DB >> 20609689

Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge.

Frank Weidemann1, Claudia Sommer, Thomas Duning, Ines Lanzl, Matthias Möhrenschlager, Dennis Naleschinski, Kathrin Arning, Ralf Baron, Markus Niemann, Frank Breunig, Roland Schaefer, Jörg Strotmann, Christoph Wanner.   

Abstract

Fabry disease is a rare X-linked storage disorder leading to an accumulation of globotriaosylceramides in all cells carrying lysosomes. As the accumulation occurs in most organs, different medical specialties are involved in the diagnostics and therapy of Fabry disease. With this review of the 3 main specialties (cardiology, nephrology, and neurology) and, in addition, the adjacent specialties (ophthalmology and dermatology), we aim to discuss the division-related responsibilities and want to suggest an organ-related additional therapy besides enzyme replacement therapy. Copyright 2010 Elsevier Inc. All rights reserved.

Entities:  

Mesh：

Year:  2010        PMID： 20609689     DOI： 10.1016/j.amjmed.2009.12.022

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


  7 in total

1.  Barriers to transplantation in adults with inborn errors of metabolism.

Authors:  S M Sirrs; H Faghfoury; E M Yoshida; T Geberhiwot
Journal:  JIMD Rep       Date:  2012-08-22

2.  Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.

Authors:  Gabor E Linthorst; Alessandro P Burlina; Franco Cecchi; Timothy M Cox; Janice M Fletcher; Ulla Feldt-Rasmussen; Roberto Giugliani; Carla E M Hollak; Gunnar Houge; Derralynn Hughes; Iikka Kantola; Robin Lachmann; Monica Lopez; Alberto Ortiz; Rossella Parini; Alberto Rivera; Arndt Rolfs; Uma Ramaswami; Einar Svarstad; Camilla Tondel; Anna Tylki-Szymanska; Bojan Vujkovac; Steven Waldek; Michael West; F Weidemann; Atul Mehta
Journal:  JIMD Rep       Date:  2012-07-14

Review 3.  [Pain therapy for Fabry's disease].

Authors:  C Sommer; N Uçeyler; T Duning; K Arning; R Baron; E Brand; S Canaan-Kühl; M Hilz; D Naleschinski; C Wanner; F Weidemann
Journal:  Internist (Berl)       Date:  2013-01       Impact factor: 0.743

4.  Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis.

Authors:  Zaheer Yousef; Perry M Elliott; Franco Cecchi; Brigitte Escoubet; Ales Linhart; Lorenzo Monserrat; Mehdi Namdar; Frank Weidemann
Journal:  Eur Heart J       Date:  2012-06-26       Impact factor: 29.983

Review 5.  Fabry disease.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2010-11-22       Impact factor: 4.123

Review 6.  Left Ventricular Hypertrophy: Etiology-Based Therapeutic Options.

Authors:  Begum Yetis Sayin; Ali Oto
Journal:  Cardiol Ther       Date:  2022-03-30

Review 7.  Fibrosis: a key feature of Fabry disease with potential therapeutic implications.

Authors:  Frank Weidemann; Maria D Sanchez-Niño; Juan Politei; João-Paulo Oliveira; Christoph Wanner; David G Warnock; Alberto Ortiz
Journal:  Orphanet J Rare Dis       Date:  2013-08-06       Impact factor: 4.123
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.